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背景:研究已证实细胞色素P450酶同工酶2C19,其代谢表型呈现遗传多态性,表现为强、弱代谢型,而且存在显著的种族间和个体间差异。目的:观察新疆维吾尔族人群胞色素P450酶同工酶2C19基因多态性分布情况。方法:纳入144例新疆维吾尔族和156例汉族健康志愿者,采用多聚酶链反应-限制性片段长度多态性法进行细胞色素P450酶同工酶2C19基因多态性分析,进一步观察维吾尔族和汉族人基因表型和基因频率的差异。结果与结论:新疆维吾尔族人群强代谢型基因wt/wt,wt/m1,wt/m1+wt/m2的总频率明显高于汉族(P<0.05),而弱代谢型基因m1/m1的总频率明显低于汉族(P<0.05)。维吾尔族和汉族的wt,m1,m2的等位基因频率差异均有显著性意义(P<0.05),其中m1等位基因频率为m2的58倍(P<0.01)。结果显示,中国新疆维吾尔族人群胞色素P450酶同工酶2C19弱代谢型(m1/m1)频率低于汉族,由于m1等位基因频率远高于汉族人群,因此维吾尔族胞色素P450酶同工酶2C19基因突变以m1型为主。
BACKGROUND: Studies have demonstrated that the cytochrome P450 isoenzyme 2C19 shows a genetic polymorphism in its metabolic phenotype, showing strong and weak metabolites, with significant inter-ethnic and inter-individual differences. Objective: To observe the distribution of cytochrome P450 isoenzyme 2C19 polymorphism in Xinjiang Uygur population. Methods: A total of 144 Xinjiang Uyghurs and 156 healthy Han volunteers were included in this study. The genotypes of cytochrome P450 isoenzyme 2C19 were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Differences in human gene phenotype and gene frequency. RESULTS AND CONCLUSION: The total frequency of the strong metabolic genes wt / wt, wt / m1, wt / m1 + wt / m2 in Xinjiang Uygur population was significantly higher than that in Han people (P <0.05) The frequency was significantly lower than Han (P <0.05). The allele frequencies of wt, m1 and m2 in Uygur and Han were significantly different (P <0.05), and the m1 allele frequency was 58 times of that in m2 (P <0.01). The results showed that the frequency of m1 / m1 of cytochrome P450 isoenzyme 2C19 in Xinjiang Uygur population was lower than that in Han Chinese. Because the frequency of m1 allele was much higher than that of Han population, the Uygur cytochrome P450 enzymes The mutation of 2C19 gene was mainly m1.